ClinVar

In 5 affected members of a 3-generation family with autosomal dominant juvenile-onset cataract (CTRCT21; 610202), Jamieson et al. (2002) identified a 1670G-C transversion in the MAF gene, resulting in an arg288-to-pro (R288P) substitution in the basic region of the DNA-binding domain of MAF, predicted to cause an abnormal helical conformation. The cataracts were cortical pulverulent opacities in a lamellar distribution. Nuclear pulverulent opacities were present in 2 cases. Later progression with posterior subcapsular opacification necessitated surgery in adult life. Two of the 5 affected individuals had microcornea, and 1 also had bilateral iris colobomas. The mutation was not found in 217 other subjects with a range of eye anomalies or in 496 normal control chromosomes.

Wende et al. (2012) tested vibrotactile acuity over a wide range of frequencies in 4 affected members of the family originally studied by Jamieson et al. (2002). The authors found that the skin of individuals with the R288P substitution displayed reduced acuity to high-frequency vibration compared to normal controls.